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Case Reports
. 1988 Sep;31(1):123-9.
doi: 10.1002/ajmg.1320310114.

Dandy-Walker malformation in Ellis-van Creveld syndrome

Affiliations
Case Reports

Dandy-Walker malformation in Ellis-van Creveld syndrome

K M Zangwill et al. Am J Med Genet. 1988 Sep.

Abstract

We report on 2 Old Order Amish patients with Ellis-van Creveld (EvC) syndrome and the Dandy-Walker malformation; a similar case is noted in the literature. Pedigree analysis of our patients documents extensive inbreeding in successive generations. Considering the rarity of EvC syndrome and Dandy-Walker malformation as isolated malformations, the appearance of both in our 2 patients plus the patient in the literature suggests that Dandy-Walker malformation may be a manifestation in the EvC syndrome. However, in this isolate the coincidental occurrence of 2 rare recessive traits cannot be excluded.

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